| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38554306A= | CA1358563074 | SCN5A | c.4783T= (p.Phe1595=) c.4786T= (p.Phe1596=) c.4732T= (p.Phe1578=) c.4624T= (p.Phe1542=) c.4714+69T= (n.4714+69T=) n.244T= c.4657T= (p.Phe1553=) c.4729T= (p.Phe1577=) | |
| 3 | g.38554306A>C | CA352143622 | SCN5A | c.4783T>G (p.Phe1595Val) c.4786T>G (p.Phe1596Val) c.4732T>G (p.Phe1578Val) c.4624T>G (p.Phe1542Val) c.4714+69T>G (n.4714+69T>G) n.244T>G c.4657T>G (p.Phe1553Val) c.4729T>G (p.Phe1577Val) | |
| 3 | g.38554306A>G | CA352143621 | SCN5A | c.4783T>C (p.Phe1595Leu) c.4786T>C (p.Phe1596Leu) c.4732T>C (p.Phe1578Leu) c.4624T>C (p.Phe1542Leu) c.4714+69T>C (n.4714+69T>C) n.244T>C c.4657T>C (p.Phe1553Leu) c.4729T>C (p.Phe1577Leu) | |
| 3 | g.38554306A>T | CA018565 | SCN5A | c.4783T>A (p.Phe1595Ile) c.4786T>A (p.Phe1596Ile) c.4732T>A (p.Phe1578Ile) c.4624T>A (p.Phe1542Ile) c.4714+69T>A (n.4714+69T>A) n.244T>A c.4657T>A (p.Phe1553Ile) c.4729T>A (p.Phe1577Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38554307G>A | CA433134509 | SCN5A | c.4782C>T (p.Asp1594=) c.4785C>T (p.Asp1595=) c.4731C>T (p.Asp1577=) c.4623C>T (p.Asp1541=) c.4714+68C>T (n.4714+68C>T) n.243C>T c.4656C>T (p.Asp1552=) c.4728C>T (p.Asp1576=) | |
| 3 | g.38554307G>C | CA352143623 | SCN5A | c.4782C>G (p.Asp1594Glu) c.4785C>G (p.Asp1595Glu) c.4731C>G (p.Asp1577Glu) c.4623C>G (p.Asp1541Glu) c.4714+68C>G (n.4714+68C>G) n.243C>G c.4656C>G (p.Asp1552Glu) c.4728C>G (p.Asp1576Glu) | |
| 3 | g.38554307G>T | CA352143624 | SCN5A | c.4782C>A (p.Asp1594Glu) c.4785C>A (p.Asp1595Glu) c.4731C>A (p.Asp1577Glu) c.4623C>A (p.Asp1541Glu) c.4714+68C>A (n.4714+68C>A) n.243C>A c.4656C>A (p.Asp1552Glu) c.4728C>A (p.Asp1576Glu) | |
| 3 | g.38554308T>A | CA352143625 | SCN5A | c.4781A>T (p.Asp1594Val) c.4784A>T (p.Asp1595Val) c.4730A>T (p.Asp1577Val) c.4622A>T (p.Asp1541Val) c.4714+67A>T (n.4714+67A>T) n.242A>T c.4655A>T (p.Asp1552Val) c.4727A>T (p.Asp1576Val) | |
| 3 | g.38554308T>C | CA352143626 | SCN5A | c.4781A>G (p.Asp1594Gly) c.4784A>G (p.Asp1595Gly) c.4730A>G (p.Asp1577Gly) c.4622A>G (p.Asp1541Gly) c.4714+67A>G (n.4714+67A>G) n.242A>G c.4655A>G (p.Asp1552Gly) c.4727A>G (p.Asp1576Gly) | |
| 3 | g.38554308T>G | CA352143627 | SCN5A | c.4781A>C (p.Asp1594Ala) c.4784A>C (p.Asp1595Ala) c.4730A>C (p.Asp1577Ala) c.4622A>C (p.Asp1541Ala) c.4714+67A>C (n.4714+67A>C) n.242A>C c.4655A>C (p.Asp1552Ala) c.4727A>C (p.Asp1576Ala) | |
| 3 | g.38554309C>A | CA352143628 | SCN5A | c.4780G>T (p.Asp1594Tyr) c.4783G>T (p.Asp1595Tyr) c.4729G>T (p.Asp1577Tyr) c.4621G>T (p.Asp1541Tyr) c.4714+66G>T (n.4714+66G>T) n.241G>T c.4654G>T (p.Asp1552Tyr) c.4726G>T (p.Asp1576Tyr) | |
| 3 | g.38554309C= | CA1358563085 | SCN5A | c.4780G= (p.Asp1594=) c.4783G= (p.Asp1595=) c.4729G= (p.Asp1577=) c.4621G= (p.Asp1541=) c.4714+66G= (n.4714+66G=) n.241G= c.4654G= (p.Asp1552=) c.4726G= (p.Asp1576=) | |
| 3 | g.38554309C>G | CA018558 | SCN5A | c.4780G>C (p.Asp1594His) c.4783G>C (p.Asp1595His) c.4729G>C (p.Asp1577His) c.4621G>C (p.Asp1541His) c.4714+66G>C (n.4714+66G>C) n.241G>C c.4654G>C (p.Asp1552His) c.4726G>C (p.Asp1576His) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38554309C>T | CA018551 | SCN5A | c.4780G>A (p.Asp1594Asn) c.4783G>A (p.Asp1595Asn) c.4729G>A (p.Asp1577Asn) c.4621G>A (p.Asp1541Asn) c.4714+66G>A (n.4714+66G>A) n.241G>A c.4654G>A (p.Asp1552Asn) c.4726G>A (p.Asp1576Asn) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38554310G>A | CA063597 | SCN5A | c.4779C>T (p.Phe1593=) c.4782C>T (p.Phe1594=) c.4728C>T (p.Phe1576=) c.4620C>T (p.Phe1540=) c.4714+65C>T (n.4714+65C>T) n.240C>T c.4653C>T (p.Phe1551=) c.4725C>T (p.Phe1575=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38554310G>C | CA352143629 | SCN5A | c.4779C>G (p.Phe1593Leu) c.4782C>G (p.Phe1594Leu) c.4728C>G (p.Phe1576Leu) c.4620C>G (p.Phe1540Leu) c.4714+65C>G (n.4714+65C>G) n.240C>G c.4653C>G (p.Phe1551Leu) c.4725C>G (p.Phe1575Leu) | |
| 3 | g.38554310G= | CA1358563095 | SCN5A | c.4779C= (p.Phe1593=) c.4782C= (p.Phe1594=) c.4728C= (p.Phe1576=) c.4620C= (p.Phe1540=) c.4714+65C= (n.4714+65C=) n.240C= c.4653C= (p.Phe1551=) c.4725C= (p.Phe1575=) | |
| 3 | g.38554310G>T | CA352143630 | SCN5A | c.4779C>A (p.Phe1593Leu) c.4782C>A (p.Phe1594Leu) c.4728C>A (p.Phe1576Leu) c.4620C>A (p.Phe1540Leu) c.4714+65C>A (n.4714+65C>A) n.240C>A c.4653C>A (p.Phe1551Leu) c.4725C>A (p.Phe1575Leu) | ClinVar dbSNP |
| 3 | g.38554311A= | CA1358563106 | SCN5A | c.4778T= (p.Phe1593=) c.4781T= (p.Phe1594=) c.4727T= (p.Phe1576=) c.4619T= (p.Phe1540=) c.4714+64T= (n.4714+64T=) n.239T= c.4652T= (p.Phe1551=) c.4724T= (p.Phe1575=) | |
| 3 | g.38554311A>C | CA352143632 | SCN5A | c.4778T>G (p.Phe1593Cys) c.4781T>G (p.Phe1594Cys) c.4727T>G (p.Phe1576Cys) c.4619T>G (p.Phe1540Cys) c.4714+64T>G (n.4714+64T>G) n.239T>G c.4652T>G (p.Phe1551Cys) c.4724T>G (p.Phe1575Cys) | |
| 3 | g.38554311A>G | CA018543 | SCN5A | c.4778T>C (p.Phe1593Ser) c.4781T>C (p.Phe1594Ser) c.4727T>C (p.Phe1576Ser) c.4619T>C (p.Phe1540Ser) c.4714+64T>C (n.4714+64T>C) n.239T>C c.4652T>C (p.Phe1551Ser) c.4724T>C (p.Phe1575Ser) | ClinVar dbSNP |
| 3 | g.38554311A>T | CA352143631 | SCN5A | c.4778T>A (p.Phe1593Tyr) c.4781T>A (p.Phe1594Tyr) c.4727T>A (p.Phe1576Tyr) c.4619T>A (p.Phe1540Tyr) c.4714+64T>A (n.4714+64T>A) n.239T>A c.4652T>A (p.Phe1551Tyr) c.4724T>A (p.Phe1575Tyr) | gnomAD v4 |
| 3 | g.38554312A= | CA1358563112 | SCN5A | c.4777T= (p.Phe1593=) c.4780T= (p.Phe1594=) c.4726T= (p.Phe1576=) c.4618T= (p.Phe1540=) c.4714+63T= (n.4714+63T=) n.238T= c.4651T= (p.Phe1551=) c.4723T= (p.Phe1575=) | |
| 3 | g.38554312A>C | CA352143634 | SCN5A | c.4777T>G (p.Phe1593Val) c.4780T>G (p.Phe1594Val) c.4726T>G (p.Phe1576Val) c.4618T>G (p.Phe1540Val) c.4714+63T>G (n.4714+63T>G) n.238T>G c.4651T>G (p.Phe1551Val) c.4723T>G (p.Phe1575Val) | |
| 3 | g.38554312A>G | CA72942416 | SCN5A | c.4777T>C (p.Phe1593Leu) c.4780T>C (p.Phe1594Leu) c.4726T>C (p.Phe1576Leu) c.4618T>C (p.Phe1540Leu) c.4714+63T>C (n.4714+63T>C) n.238T>C c.4651T>C (p.Phe1551Leu) c.4723T>C (p.Phe1575Leu) | dbSNP |
| 3 | g.38554312A>T | CA352143633 | SCN5A | c.4777T>A (p.Phe1593Ile) c.4780T>A (p.Phe1594Ile) c.4726T>A (p.Phe1576Ile) c.4618T>A (p.Phe1540Ile) c.4714+63T>A (n.4714+63T>A) n.238T>A c.4651T>A (p.Phe1551Ile) c.4723T>A (p.Phe1575Ile) | |
| 3 | g.38554313G>A | CA433134514 | SCN5A | c.4776C>T (p.Ile1592=) c.4779C>T (p.Ile1593=) c.4725C>T (p.Ile1575=) c.4617C>T (p.Ile1539=) c.4714+62C>T (n.4714+62C>T) n.237C>T c.4650C>T (p.Ile1550=) c.4722C>T (p.Ile1574=) | ClinVar dbSNP |
| 3 | g.38554313G>C | CA018537 | SCN5A | c.4776C>G (p.Ile1592Met) c.4779C>G (p.Ile1593Met) c.4725C>G (p.Ile1575Met) c.4617C>G (p.Ile1539Met) c.4714+62C>G (n.4714+62C>G) n.237C>G c.4650C>G (p.Ile1550Met) c.4722C>G (p.Ile1574Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38554313G= | CA1358563116 | SCN5A | c.4776C= (p.Ile1592=) c.4779C= (p.Ile1593=) c.4725C= (p.Ile1575=) c.4617C= (p.Ile1539=) c.4714+62C= (n.4714+62C=) n.237C= c.4650C= (p.Ile1550=) c.4722C= (p.Ile1574=) | |
| 3 | g.38554313G>T | CA433134515 | SCN5A | c.4776C>A (p.Ile1592=) c.4779C>A (p.Ile1593=) c.4725C>A (p.Ile1575=) c.4617C>A (p.Ile1539=) c.4714+62C>A (n.4714+62C>A) n.237C>A c.4650C>A (p.Ile1550=) c.4722C>A (p.Ile1574=) | gnomAD v4 |
| 3 | g.38554314A= | CA1358563119 | SCN5A | c.4775T= (p.Ile1592=) c.4778T= (p.Ile1593=) c.4724T= (p.Ile1575=) c.4616T= (p.Ile1539=) c.4714+61T= (n.4714+61T=) n.236T= c.4649T= (p.Ile1550=) c.4721T= (p.Ile1574=) | |
| 3 | g.38554314A>C | CA352143635 | SCN5A | c.4775T>G (p.Ile1592Ser) c.4778T>G (p.Ile1593Ser) c.4724T>G (p.Ile1575Ser) c.4616T>G (p.Ile1539Ser) c.4714+61T>G (n.4714+61T>G) n.236T>G c.4649T>G (p.Ile1550Ser) c.4721T>G (p.Ile1574Ser) | dbSNP |
| 3 | g.38554314A>G | CA352143636 | SCN5A | c.4775T>C (p.Ile1592Thr) c.4778T>C (p.Ile1593Thr) c.4724T>C (p.Ile1575Thr) c.4616T>C (p.Ile1539Thr) c.4714+61T>C (n.4714+61T>C) n.236T>C c.4649T>C (p.Ile1550Thr) c.4721T>C (p.Ile1574Thr) | ClinVar gnomAD v4 |
| 3 | g.38554314A>T | CA352143637 | SCN5A | c.4775T>A (p.Ile1592Asn) c.4778T>A (p.Ile1593Asn) c.4724T>A (p.Ile1575Asn) c.4616T>A (p.Ile1539Asn) c.4714+61T>A (n.4714+61T>A) n.236T>A c.4649T>A (p.Ile1550Asn) c.4721T>A (p.Ile1574Asn) | |
| 3 | g.38554315T>A | CA352143640 | SCN5A | c.4774A>T (p.Ile1592Phe) c.4777A>T (p.Ile1593Phe) c.4723A>T (p.Ile1575Phe) c.4615A>T (p.Ile1539Phe) c.4714+60A>T (n.4714+60A>T) n.235A>T c.4648A>T (p.Ile1550Phe) c.4720A>T (p.Ile1574Phe) | |
| 3 | g.38554315T>C | CA352143638 | SCN5A | c.4774A>G (p.Ile1592Val) c.4777A>G (p.Ile1593Val) c.4723A>G (p.Ile1575Val) c.4615A>G (p.Ile1539Val) c.4714+60A>G (n.4714+60A>G) n.235A>G c.4648A>G (p.Ile1550Val) c.4720A>G (p.Ile1574Val) | |
| 3 | g.38554315T>G | CA352143639 | SCN5A | c.4774A>C (p.Ile1592Leu) c.4777A>C (p.Ile1593Leu) c.4723A>C (p.Ile1575Leu) c.4615A>C (p.Ile1539Leu) c.4714+60A>C (n.4714+60A>C) n.235A>C c.4648A>C (p.Ile1550Leu) c.4720A>C (p.Ile1574Leu) | |
| 3 | g.38554316A>C | CA352143641 | SCN5A | c.4773T>G (p.Asn1591Lys) c.4776T>G (p.Asn1592Lys) c.4722T>G (p.Asn1574Lys) c.4614T>G (p.Asn1538Lys) c.4714+59T>G (n.4714+59T>G) n.234T>G c.4647T>G (p.Asn1549Lys) c.4719T>G (p.Asn1573Lys) | |
| 3 | g.38554316A>G | CA433134517 | SCN5A | c.4773T>C (p.Asn1591=) c.4776T>C (p.Asn1592=) c.4722T>C (p.Asn1574=) c.4614T>C (p.Asn1538=) c.4714+59T>C (n.4714+59T>C) n.234T>C c.4647T>C (p.Asn1549=) c.4719T>C (p.Asn1573=) | |
| 3 | g.38554316A>T | CA352143642 | SCN5A | c.4773T>A (p.Asn1591Lys) c.4776T>A (p.Asn1592Lys) c.4722T>A (p.Asn1574Lys) c.4614T>A (p.Asn1538Lys) c.4714+59T>A (n.4714+59T>A) n.234T>A c.4647T>A (p.Asn1549Lys) c.4719T>A (p.Asn1573Lys) | |
| 3 | g.38554317T>A | CA352143643 | SCN5A | c.4772A>T (p.Asn1591Ile) c.4775A>T (p.Asn1592Ile) c.4721A>T (p.Asn1574Ile) c.4613A>T (p.Asn1538Ile) c.4714+58A>T (n.4714+58A>T) n.233A>T c.4646A>T (p.Asn1549Ile) c.4718A>T (p.Asn1573Ile) | |
| 3 | g.38554317T>C | CA352143644 | SCN5A | c.4772A>G (p.Asn1591Ser) c.4775A>G (p.Asn1592Ser) c.4721A>G (p.Asn1574Ser) c.4613A>G (p.Asn1538Ser) c.4714+58A>G (n.4714+58A>G) n.233A>G c.4646A>G (p.Asn1549Ser) c.4718A>G (p.Asn1573Ser) | |
| 3 | g.38554317T>G | CA352143645 | SCN5A | c.4772A>C (p.Asn1591Thr) c.4775A>C (p.Asn1592Thr) c.4721A>C (p.Asn1574Thr) c.4613A>C (p.Asn1538Thr) c.4714+58A>C (n.4714+58A>C) n.233A>C c.4646A>C (p.Asn1549Thr) c.4718A>C (p.Asn1573Thr) | |
| 3 | g.38554318T>A | CA352143646 | SCN5A | c.4771A>T (p.Asn1591Tyr) c.4774A>T (p.Asn1592Tyr) c.4720A>T (p.Asn1574Tyr) c.4612A>T (p.Asn1538Tyr) c.4714+57A>T (n.4714+57A>T) n.232A>T c.4645A>T (p.Asn1549Tyr) c.4717A>T (p.Asn1573Tyr) | ClinVar dbSNP |
| 3 | g.38554318T>C | CA352143648 | SCN5A | c.4771A>G (p.Asn1591Asp) c.4774A>G (p.Asn1592Asp) c.4720A>G (p.Asn1574Asp) c.4612A>G (p.Asn1538Asp) c.4714+57A>G (n.4714+57A>G) n.232A>G c.4645A>G (p.Asn1549Asp) c.4717A>G (p.Asn1573Asp) | |
| 3 | g.38554318T>G | CA352143647 | SCN5A | c.4771A>C (p.Asn1591His) c.4774A>C (p.Asn1592His) c.4720A>C (p.Asn1574His) c.4612A>C (p.Asn1538His) c.4714+57A>C (n.4714+57A>C) n.232A>C c.4645A>C (p.Asn1549His) c.4717A>C (p.Asn1573His) | |
| 3 | g.38554318T= | CA1358563124 | SCN5A | c.4771A= (p.Asn1591=) c.4774A= (p.Asn1592=) c.4720A= (p.Asn1574=) c.4612A= (p.Asn1538=) c.4714+57A= (n.4714+57A=) n.232A= c.4645A= (p.Asn1549=) c.4717A= (p.Asn1573=) | |
| 3 | g.38554319C>A | CA352143649 | SCN5A | c.4770G>T (p.Trp1590Cys) c.4773G>T (p.Trp1591Cys) c.4719G>T (p.Trp1573Cys) c.4611G>T (p.Trp1537Cys) c.4714+56G>T (n.4714+56G>T) n.231G>T c.4644G>T (p.Trp1548Cys) c.4716G>T (p.Trp1572Cys) | |
| 3 | g.38554319C= | CA1358563129 | SCN5A | c.4770G= (p.Trp1590=) c.4773G= (p.Trp1591=) c.4719G= (p.Trp1573=) c.4611G= (p.Trp1537=) c.4714+56G= (n.4714+56G=) n.231G= c.4644G= (p.Trp1548=) c.4716G= (p.Trp1572=) | |
| 3 | g.38554319C>G | CA352143650 | SCN5A | c.4770G>C (p.Trp1590Cys) c.4773G>C (p.Trp1591Cys) c.4719G>C (p.Trp1573Cys) c.4611G>C (p.Trp1537Cys) c.4714+56G>C (n.4714+56G>C) n.231G>C c.4644G>C (p.Trp1548Cys) c.4716G>C (p.Trp1572Cys) |